Variant report

Variant	esv3408910
Chromosome Location	chr8:111922076-111927374
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:111918636..111921932-chr8:111925930..111928582,3	K562	blood:
2	chr8:111923379..111925877-chr8:111931950..111934366,2	MCF-7	breast:
3	chr8:111924377..111926908-chr8:111953183..111955700,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62520666	chr8:111925610-111925611	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565486048	chr8:111925635-111925636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374781984	chr8:111925667-111925668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs193213863	chr8:111925682-111925683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569654552	chr8:111925684-111925685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538443079	chr8:111925689-111925690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184363593	chr8:111925690-111925691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537373598	chr8:111925691-111925692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34773185	chr8:111925704-111925705	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs5894004	chr8:111925706-111925707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs397892983	chr8:111925708-111925709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs16881358	chr8:111925719-111925720	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs540333648	chr8:111925752-111925753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181251554	chr8:111925783-111925784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs16881360	chr8:111925788-111925789	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs573932148	chr8:111925830-111925831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572573712	chr8:111925847-111925848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534862992	chr8:111925872-111925873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558343943	chr8:111925985-111925986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs578132828	chr8:111925987-111925988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544080677	chr8:111926050-111926051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184119271	chr8:111926104-111926105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188466857	chr8:111926148-111926149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543082337	chr8:111926164-111926165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559270457	chr8:111926193-111926194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573300959	chr8:111926210-111926211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542219999	chr8:111926313-111926314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs11998106	chr8:111926358-111926359	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs528206647	chr8:111926363-111926364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532093155	chr8:111926385-111926386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373875671	chr8:111926439-111926440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551259515	chr8:111926446-111926447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551695530	chr8:111926456-111926457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs60246374	chr8:111926468-111926469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565068906	chr8:111926484-111926485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2054926	chr8:111926535-111926536	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs570004404	chr8:111926549-111926550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550882704	chr8:111926579-111926580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545723731	chr8:111926702-111926703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567611056	chr8:111926775-111926776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535800591	chr8:111926790-111926791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549406130	chr8:111926853-111926854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566003375	chr8:111926941-111926942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535138913	chr8:111926960-111926961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558006905	chr8:111927042-111927043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139051640	chr8:111927176-111927177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565300417	chr8:111927224-111927225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143030601	chr8:111927230-111927231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557187268	chr8:111927234-111927235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574003938	chr8:111927242-111927243	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:111925600-111927400	Enhancers	HUVEC	blood vessel
2	chr8:111926800-111927400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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